E103K (p.Glu103Lys) variant of PPARGC1A (Q9UBK2)
E103K (p.Glu103Lys) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- TOPMed rs1381870292
- gnomAD rs1381870292
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.36
- CADD 27.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available